Variant report

Variant	rs6507691
Chromosome Location	chr18:43808648-43808649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11082514	0.89[EUR][1000 genomes]
rs11082518	0.95[EUR][1000 genomes]
rs11082519	0.91[ASN][1000 genomes]
rs12457516	0.86[ASN][1000 genomes]
rs12457740	0.85[EUR][1000 genomes]
rs12605945	0.96[EUR][1000 genomes]
rs12607898	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12608232	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12709736	0.94[EUR][1000 genomes]
rs12962307	0.96[EUR][1000 genomes]
rs12962951	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12963787	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12963943	0.89[EUR][1000 genomes]
rs12969147	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13381496	0.84[EUR][1000 genomes]
rs13381515	0.86[EUR][1000 genomes]
rs13381523	0.85[EUR][1000 genomes]
rs13381525	0.85[EUR][1000 genomes]
rs13381529	0.86[EUR][1000 genomes]
rs1808946	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36191490	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3744858	0.95[EUR][1000 genomes]
rs4335852	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4453594	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4453596	0.85[EUR][1000 genomes]
rs4542747	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4574015	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4627465	0.85[EUR][1000 genomes]
rs4890317	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4890319	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890320	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890321	0.95[EUR][1000 genomes]
rs4890626	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4890628	0.95[EUR][1000 genomes]
rs4890629	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4890631	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890632	0.96[EUR][1000 genomes]
rs4890633	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890634	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890635	0.90[ASN][1000 genomes]
rs55747741	0.85[EUR][1000 genomes]
rs62096523	0.83[EUR][1000 genomes]
rs62096524	0.82[EUR][1000 genomes]
rs62096525	0.84[EUR][1000 genomes]
rs62096526	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62098160	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6507676	0.83[EUR][1000 genomes]
rs6507677	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6507680	0.90[EUR][1000 genomes]
rs6507681	0.86[EUR][1000 genomes]
rs6507682	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6507690	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6507692	0.96[EUR][1000 genomes]
rs6507693	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718513	0.93[EUR][1000 genomes]
rs718514	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7227847	0.93[EUR][1000 genomes]
rs7228365	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7230154	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7230995	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7231430	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7231820	0.96[EUR][1000 genomes]
rs7234695	0.88[EUR][1000 genomes]
rs7236687	0.81[EUR][1000 genomes]
rs7239351	0.95[EUR][1000 genomes]
rs7240354	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7241527	0.81[EUR][1000 genomes]
rs7241829	0.82[EUR][1000 genomes]
rs7245091	0.84[EUR][1000 genomes]
rs73425119	0.86[EUR][1000 genomes]
rs8084309	0.86[EUR][1000 genomes]
rs8084827	0.83[EUR][1000 genomes]
rs8084829	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8085138	0.90[EUR][1000 genomes]
rs8086610	0.94[EUR][1000 genomes]
rs8086956	0.93[EUR][1000 genomes]
rs8090542	0.90[EUR][1000 genomes]
rs8093407	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8094070	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8094706	0.90[EUR][1000 genomes]
rs8095142	0.91[EUR][1000 genomes]
rs8095729	0.84[EUR][1000 genomes]
rs8095799	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8098751	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8099202	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9675387	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9807157	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9944715	0.96[EUR][1000 genomes]
rs9944767	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9944836	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9945783	0.93[EUR][1000 genomes]
rs9947206	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9948282	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9949494	0.95[EUR][1000 genomes]
rs9951624	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9952469	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9952654	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9956574	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9959813	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9959905	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9960378	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9963153	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064031	chr18:43782309-43878806	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6507691	C18orf25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43777000-43812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:43792200-43814600	Weak transcription	Colon Smooth Muscle	Colon
3	chr18:43794800-43815000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr18:43796600-43809600	Weak transcription	Aorta	Aorta
5	chr18:43796600-43809600	Weak transcription	Esophagus	oesophagus
6	chr18:43796600-43809600	Weak transcription	Lung	lung
7	chr18:43796600-43809600	Weak transcription	Spleen	Spleen
8	chr18:43796600-43814200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr18:43796600-43815200	Weak transcription	Pancreas	Pancrea
10	chr18:43796600-43820000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:43796600-43827600	Weak transcription	Fetal Muscle Leg	muscle
12	chr18:43796800-43814800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:43797000-43814800	Weak transcription	Fetal Brain Female	brain
14	chr18:43797000-43820000	Weak transcription	Ovary	ovary
15	chr18:43797000-43833400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr18:43797400-43829600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr18:43798800-43833800	Weak transcription	HepG2	liver
18	chr18:43799000-43814600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr18:43799000-43834000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:43800400-43810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:43800400-43814400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:43800400-43814600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr18:43800800-43829000	Weak transcription	HSMM	muscle
24	chr18:43801200-43829600	Weak transcription	Thymus	Thymus
25	chr18:43802800-43828200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr18:43802800-43830000	Weak transcription	Brain Substantia Nigra	brain
27	chr18:43803000-43820000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:43803600-43809800	Weak transcription	Right Atrium	heart
29	chr18:43803600-43827800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:43803800-43820000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr18:43804000-43814600	Weak transcription	Brain Anterior Caudate	brain
32	chr18:43804200-43815200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr18:43804400-43810000	Weak transcription	Fetal Heart	heart
34	chr18:43804400-43820000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr18:43804400-43820000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr18:43804400-43825200	Weak transcription	Hela-S3	cervix
37	chr18:43804600-43815200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:43804600-43825200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:43804800-43814400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr18:43804800-43829400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr18:43805000-43809800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr18:43805200-43809600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:43805200-43809600	Weak transcription	Psoas Muscle	Psoas
44	chr18:43805200-43814600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr18:43805200-43814800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr18:43805200-43815200	Weak transcription	HMEC	breast
47	chr18:43805200-43828200	Weak transcription	GM12878-XiMat	blood
48	chr18:43805400-43814600	Weak transcription	Placenta	Placenta
49	chr18:43805400-43814600	Weak transcription	NHEK	skin
50	chr18:43805400-43814800	Weak transcription	Dnd41	blood

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